The study of SLC12A3 complicated heterozygotic mutation in Children Gitelman syndrome / 医学研究生学报
Journal of Medical Postgraduates
;
(12): 37-40, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-462771
ABSTRACT
Objective Gitelman Syndrome is a disease caused by the mutation of Na-Cl cotransporter gene(SLC12A3).The article studied the significance of diagnosis and identification by genetic mutation. Methods We collected the clinical data, then we sequenced the SLC12A3 gene by the first sequencing technology and MLPA. Results SLC12A3 complicated heterozygotic mutation was observed.One of them showed c.1964G>A, p.(Arg655His) and exon 8 deletion mutation, the other showed c.2543A>T, p.(Asp848Val) and c.976delG, p.(Val326fs) mutation of SLC12A3 gene in children. Conclusion The final diagnosis depended on gene diagnosis. Pediatrician must recognize the manifestations to advoid misdiagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Medical Postgraduates
Ano de publicação:
2015
Tipo de documento:
Artigo
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